Search Results (850)

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the ATXN2 gene. At-risk couples can embark on unaffected pregnancies through preimplantation genetic testing of monogenic disorders (PGT-M) of SCA2, which should involve accurate repeat expansion detection together with risk haplotype tracking using informative linked markers. Two couples underwent SCA2 PGT-M involving analysis of whole genome amplified embryonic trophectoderm cells by ATXN2 (CAG)n triplet-primed PCR (TP-PCR) and linkage-based risk allele genotyping using customized markers. To simplify and expedite the identification of informative markers for future PGT-M cases, putative microsatellite markers closely linked to ATXN2 were initially screened for polymorphism using a small set of anonymous DNA samples obtained from Coriell Cell Repository. Shortlisted markers with high polymorphism likelihood were then multiplexed in a single-tube reaction and genotyped on 190 anonymous DNA samples to determine their polymorphic information content. Across both SCA2 PGT-M clinical cases, the linked marker genotypes corroborated the TP-PCR results, allowing clear differentiation between unaffected and affected embryos. In both cases, transfer of an unaffected embryo led to a successful pregnancy and live birth of a healthy baby. In silico mining, filtering, and curation identified 287 microsatellites located within 1.65 Mb of either side of the ATXN2 CAG repeat. Of these, eight upstream and nine downstream polymorphic markers were successfully co-amplified in a single-tube assay and demonstrated high overall heterozygosity in both Chinese and Caucasian populations. Conclusion: To ensure high diagnostic accuracy for PGT-M of SCA2, we developed a heptadecaplex microsatellite marker panel for haplotype-based linkage analysis to complement TP-PCR-based direct detection of the ATXN2 CAG repeat. The panel can rapidly identify informative markers from virtually any couple, and it works equally well on MDA-amplified DNAs for embryonic haplotype analysis. Full article

Pre-eclampsia is a Hypertensive Disorder of Pregnancy (HDP) characterized by hypertension and proteinuria, affecting 2–8% of pregnancies worldwide and constituting a major public health concern. Genes of the renin–angiotensin system have been investigated as potential causative factors, but inconclusive results have been obtained. The objective of this pilot study is to evaluate the possible contribution of alleles, genotypes or haplotypes of two single-nucleotide polymorphisms (SNPs) T174M (rs4762) and M235T (rs699) in AGT gene to pre-eclampsia in the Mexican population. We analyzed the association by performing PCR-RFLP with DNA extracted from whole blood samples of Mexican women with pre-eclampsia or normotensive pregnancy and the general population (GP). Our results showed a significant difference in the rate of heterozygosity for the T174M polymorphism between cases and controls. In addition, this polymorphism together with homozygosity for the M235T polymorphism may represent a possible genetic marker associated with pre-eclampsia. The T-C haplotype (174M–M235) was more common in patients with pre-eclampsia (non-significant difference p = 0.0503). The identification of genetic risk markers may support the early detection of pre-eclampsia and strengthen peripartum maternal health strategies within a global health framework aimed at reducing maternal mortality. Full article

Objectives: To characterize the prenatal phenotypic spectrum, genetic findings, and pregnancy outcomes of fetal renal agenesis (RA), and to clarify the complementary roles of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in phenotype-stratified prenatal evaluation. Methods: This retrospective study included 203 RA fetuses between March 2017 and November 2025. All cases underwent genome-wide copy number variant (CNV) analysis, and selected cases underwent WES. Detection rates were compared across subgroups by laterality, isolated vs. non-isolated phenotype, fetal sex, and presence of extrarenal anomalies. Pregnancy outcomes and postnatal imaging follow-up were collected when available. A systematic literature review of prenatal genetic testing in RA fetuses was performed. Results: Among 203 fetuses, unilateral RA accounted for 92.6% of cases, and 65.0% were isolated. Chromosomal abnormalities were identified in 15 fetuses (7.4%), including aneuploidies and pathogenic or likely pathogenic (P/LP) CNVs. WES identified P/LP single nucleotide variants in 8 of 127 cases (6.3%), increasing to 8.7% when variants with potential clinical relevance were included. Diagnostic yield of WES was significantly higher in bilateral RA, non-isolated cases, and fetuses with extrarenal anomalies. Postnatal follow-up confirmed RA in most liveborn cases, although additional phenotypes emerged in some children. Literature synthesis identified recurrent CNVs at 16p11.2 and 22q11.21 and frequent involvement of FRAS1, FREM2, GFRA1, and GREB1L. Conclusions: RA shows marked phenotypic and genetic heterogeneity. CMA remains a first-tier prenatal test, while WES provides substantial incremental yield in bilateral, non-isolated, or extrarenal-associated RA. Integrated, phenotype-driven testing with longitudinal follow-up supports improved prognostication and genetic counseling. Full article

Objective: To identify risk factors for intrapartum cesarean delivery (CD) among women with obesity (BMI ≥ 30) and to evaluate whether a machine learning model (XGBoost) can improve prediction of this outcome compared with a previously developed regression-based risk score. Methods: A retrospective cohort study at a single university-affiliated tertiary medical center was conducted. All women with a pre-pregnancy BMI ≥ 30 who initiated a trial of labor between 2012 and 2024 were included. Women who underwent elective CD or had missing outcome data were excluded. Maternal, obstetric, and intrapartum characteristics were compared between women who delivered vaginally and those who required an intrapartum CD. Predictors were evaluated using extreme gradient boosting (XGBoost), and model performance was assessed using receiver operating characteristic (ROC) analysis and SHAP-based interpretability. Results: Among 146,999 women who delivered during the study period, 10,248 (7.0%) had a pre-pregnancy BMI ≥ 30. A total of 7236 obese women attempted a trial of labor, of whom 1031 (14.5%) underwent an intrapartum CD. Key predictors included limited cervical dilatation at admission, epidural anesthesia, nulliparity, maternal BMI and age, oxytocin use, birthweight, inflammatory markers (white blood count and neutrophils to lymphocytes ratio), and previous cesarean scar. The XGBoost model demonstrated excellent discriminatory ability with an AUC of 0.945 (95%CI 0.930–0.960, DeLong), and exceeded the performance of our previous regression-based score, and provided detailed insight into nonlinear effects through SHAP analysis. In a secondary analysis restricted to variables available at admission, a pre-labor model retained a strong discriminatory performance across BMI categories, supporting its applicability for early risk stratification prior to labor onset. Conclusions: A machine learning-based model accurately predicts intrapartum cesarean delivery in women with obesity and may serve as a valuable tool to support individualized counseling and delivery planning. Full article

Background: Prenatal detection of fetal structural anomalies often prompts chromosomal analysis; however, chromosomal microarray analysis (CMA) has limited diagnostic yield for monogenic disorders. Whole-exome sequencing (WES) has emerged as a powerful tool for identifying single-gene etiologies, particularly in cases with complex neurodevelopmental phenotypes. Case Presentation: We report a female infant presenting with prenatally detected ventriculomegaly and inconclusive chromosomal testing. Prenatal investigations, including karyotyping and genome-wide chromosomal sequencing, identified several copy number variants classified as variants of uncertain significance but failed to establish a definitive diagnosis. Postnatally, the patient developed progressive neurological abnormalities, including microcephaly, facial dysmorphism, dystonic movements, and severe global developmental delay. Trio-based whole-exome sequencing identified a heterozygous de novo pathogenic missense variant in the DDX3X gene (c.976C>T; p.Arg326Cys), establishing the diagnosis of DDX3X-related neurodevelopmental disorder. Conclusions: This case highlights the diagnostic limitations of standard prenatal chromosomal testing in detecting monogenic neurodevelopmental disorders and underscores the critical role of timely genetic counseling and exome sequencing. Earlier selective implementation of WES during pregnancy could have enabled an earlier diagnosis, improved prognostic counseling, and optimized clinical decision-making. Full article

Background/Objectives: Given the lack of clarity regarding how maternal overnutrition during pregnancy regulates offspring metabolic health, our study intends to explore the specific influences of maternal Western diet (WD) exposure on neonatal islet cell development and heterogeneity. Methods: Using a WD-induced gestational diabetes mellitus (GDM) rat model, we assessed glucose homeostasis via blood glucose and serum insulin levels. Target protein expression and islet function were evaluated using immunofluorescence and insulin secretion assays, respectively. To delineate alterations in cellular heterogeneity, we subsequently performed single-cell RNA sequencing (scRNA-seq) on isolated islet cells. Results: Maternal WD exposure induced significant glucose intolerance and insulin resistance, confirming GDM establishment. Their neonatal offspring consequently displayed disrupted glucose homeostasis, characterized by concurrent hypoglycemia, hyperinsulinemia, and enhanced insulin secretion. ScRNA-seq analysis further identified the enhanced endocrine cells in GDM-offspring islets, with imbalanced α/β-cell subsets—specifically, reduced immature α1/β1 subsets and expanded mature α2/β2/β3/β4 subsets, alongside upregulated expression of insulin- and glucagon-related genes (Ins1, Ins2, Gcg). Notably, β cells in GDM offspring displayed metabolic hyperactivity (enriched ribosomal and glycolytic pathways) with multiple organelle dysfunction, including mitochondrial swelling, cristae reduction, decreased membrane potential, and severe endoplasmic reticulum stress. Conclusions: The metabolic dysregulation of WD-induced GDM in maternal rats is transmitted to offspring, leading to disrupted neonatal α/β-cell subset balance and accelerated islet maturation. However, such excessive development comes at the cost of organelle damage in β cells. Our findings provide a molecular basis for mitigating the intergenerational transmission of diabetes through early nutritional interventions. Full article

Background/Objectives: Maternal rectovaginal carriage of Group B Streptococcus (GBS, Streptococcus agalactiae) is a major risk factor for vertical transmission and early-onset neonatal infection. Intrapartum antibiotic prophylaxis reduces early-onset disease but does not address antenatal carriage and may affect the maternal–neonatal microbiota. Microbiota-directed interventions, including probiotics, are being explored as complementary strategies. Methods: This prospective, single-centre, open-label pilot intervention study included 10 pregnant women (18–40 years) with singleton pregnancies and a positive vaginal and/or rectal GBS swab, without pre-gestational or gestational diabetes and without antibiotic use in the 4 weeks before enrolment. Participants received OMNi-BiOTiC^® FLORA plus (multi-strain lactic acid bacteria, including Lactobacillus crispatus) orally at 2 × 2 g/day from the 15th to the 34th gestational week. Microbiological swabs were obtained at qualification (12–15 weeks), mid-pregnancy (22–25 weeks), and late pregnancy (34–35 weeks). Outcomes were described descriptively. Results: Among 56 screened pregnant women, 10 were GBS-positive (17.9%) and enrolled. All participants were GBS-positive at baseline. At 22–25 weeks, 5/10 (50%) had a negative GBS result. At 34–35 weeks, 9/10 (90%) were GBS-negative, while 1/10 (10%) remained colonised. Time to first negative result ranged from 7.6 to 20.2 weeks from supplementation start (median 8.6 weeks). No recurrences (negative-to-positive transitions) were observed between the second and third sampling points. No adverse events related to supplementation were reported. In contrast, among the 46 women who were GBS-negative at screening and did not receive probiotic supplementation, 14 (30.4%) were found to be GBS-positive at routine screening performed at 35–37 weeks of gestation. Conclusions: In this pilot single-arm study, oral supplementation with a multi-strain probiotic preparation during pregnancy was associated with a time-dependent reduction in rectovaginal GBS carriage and was well tolerated. These preliminary findings support the feasibility of larger randomised controlled trials incorporating microbiome profiling and neonatal outcomes. Full article

Background/Objectives: Pregnancy is characterized by complex immunological adaptations that may increase susceptibility to infections, including SARS-CoV-2. Interleukin-6 (IL-6), a key pro-inflammatory cytokine, plays a crucial role in the immune response and has been strongly implicated in the pathogenesis of COVID-19. Genetic variations in the IL6 gene, particularly single-nucleotide polymorphisms (SNPs) in the promoter region, can modulate IL-6 expression and potentially influence individual susceptibility to viral infections. This study aimed to evaluate the relationship between promoter region IL6 gene polymorphisms and COVID-19 susceptibility, as well as the inflammatory response, in pregnant women. Methods: We enrolled in this study 204 pregnant women with evidence of SARS-CoV-2 infection in pregnancy and 134 pregnant women with no evidence of SARS-CoV-2 infection in the past. Genotyping was conducted for the two functional SNPs in the IL6 promoter region, rs1800796 and rs1800797, via Sanger sequencing, and for associations with COVID-19 susceptibility and IL-6 levels were analyzed. Results: No significant association was found between IL6 polymorphisms and COVID-19, IL-6 levels, age, or immunization status. IL-6 levels > 5 pg/mL were more frequent in SARS-CoV-2-negative pregnant women than in SARS-CoV-2-positive pregnant women (p = 0.032). Among vaccinated participants, IL-6 levels were significantly higher in SARS-CoV-2-negative pregnant women (p = 0.044), while no difference was observed in the unvaccinated group. Conclusions:IL6 polymorphisms rs1800797 and rs1800796 were not associated with infection susceptibility or IL-6 levels. These results highlight the complex immunological interplay between pregnancy, infection, and genetic background and support the need for further research in larger cohorts. Full article

Background/Objectives: Cryopreservation technology used in assisted reproductive technology (ART) has significantly improved live birth rates by enabling multiple embryo transfers with frozen embryos from a single ovarian stimulation cycle. However, there is conflicting data on the effect of prolonged cryopreservation of human blastocysts. Methods: This Danish nationwide cohort study includes all frozen embryo transfers (FETs) from 1 January 2012 to 31 March 2019. Biochemical pregnancy, clinical pregnancy, and live births were analyzed based on blastocyst storage time. Blastocyst storage time was stratified into five groups, ≤3 month, 4–6 months, 7–12 months, 13–24 months, and ≥25 months, with the shortest (≤3 months) as the reference. We also examined the risk of preterm birth, small and large for gestational age (SGA and LGA), and congenital malformations among live-born children. Multivariable analysis was used to estimate the odd ratios of the reproductive outcomes, accounting for potential confounders. Results: We identified 7042 women with 12,599 FETs. Characteristics of women at embryo transfer did not vary significantly by storage time, except for polycystic ovarian syndrome (PCOS), which increased from 2.6% in the reference group to 6.7% in the ≥25-month group. The clinical pregnancy rate was 35.7%. Blastocyst storage time did not significantly affect biochemical pregnancy rates, with adjusted odds ratios (aORs) of 0.94 (95% CI: 0.80–1.11) to 0.96 (95% CI: 0.82–1.12) for the 13–24-month and ≥25-month groups, respectively. Clinical pregnancy rates also did not decrease with storage time (aOR 0.96, 95% CI: 0.82–1.13) for ≥25 months. The live birth rate was 28.6%, with no significant decrease during storage (aOR 0.89, 95% CI: 0.75–1.06). However, the risk of LGA was slightly, but non-significantly, increased (aOR: 1.42, 95% CI: 0.84–2.42) in the ≥25-month group, whereas the aOR of SGA and congenital malformations was not increased. Conclusions: Our data indicates that storing blastocysts for a period of 25 months does not significantly affect pregnancy chances following assisted reproductive technology treatment. Full article

Background: Perinatal depression and anxiety are common but often under-detected. Current screening relies on depression-centered instruments and may miss relational drivers including sexual dysfunction, low self-esteem, and psychosocial adversity. Objective: To synthesize evidence on sexual function, self-esteem/body image, and psychosocial context as correlates of perinatal depression and anxiety, and propose a risk-stratified screening framework. Methods: We conducted a narrative evidence synthesis of studies from January 2010 to May 2025 (PubMed/MEDLINE, Scopus, Web of Science) examining associations between perinatal mood/anxiety outcomes and sexual function (Female Sexual Function Index), self-esteem/body image (Rosenberg Self-Esteem Scale), and psychosocial factors (perceived support, intimate partner violence). Results: Sexual dysfunction was highly prevalent and consistently associated with depressive and anxiety symptoms. Longitudinal evidence demonstrated bidirectional pathways: mood symptoms reduced sexual satisfaction, while sexual difficulties intensified relational strain and symptom persistence. Low self-esteem and negative body image mediated links between physiological changes and postpartum depression. Psychosocial adversity, particularly low partner support and intimate partner violence, identified high-risk subgroups with greater severity and slower recovery. Single-instrument approaches (Edinburgh Postnatal Depression Scale alone) may miss pregnancy-specific anxiety and postpartum relational drivers. Conclusions: A staged, risk-stratified model is recommended: assess pregnancy-specific anxiety alongside depression screening in the second/third trimesters; postpartum, selectively add sexual function and self-esteem assessment for women with elevated symptoms or psychosocial risk. Integration within defined referral pathways may improve detection and enable targeted perinatal mental health care. Full article

The integration of artificial intelligence (AI) with ultrasonic biosensing presents a transformative opportunity for enhancing diagnostic accuracy in agricultural and biomedical applications. This study develops a data-driven deep learning model to address the challenge of acoustic artifacts in B-mode ultrasound imaging, specifically for sow pregnancy diagnosis. We designed a biosensing system centered on a mechanical sector-scanning ultrasound probe (5.0 MHz) as the core biosensor for data acquisition. To overcome the limitations of traditional filtering methods, we introduced a lightweight Deep Neural Network (DNN) based on the YOLOv8 architecture, which was data-driven and trained on a purpose-built dataset of sow pregnancy ultrasound images featuring typical artifacts like reverberation and acoustic shadowing. The AI model functions as an intelligent detection layer that identifies and masks artifact regions while simultaneously detecting and annotating key anatomical features. This combined detection–masking approach enables artifact-aware visualization enhancement, where artifact regions are suppressed and diagnostic structures are highlighted for improved clinical interpretation. Experimental results demonstrate the superiority of our AI-enhanced approach, achieving a mean Intersection over Union (IOU) of 0.89, a Peak Signal-to-Noise Ratio (PSNR) of 34.2 dB, a Structural Similarity Index (SSIM) of 0.92, and clinically tested early gestation accuracy of 98.1%, significantly outperforming traditional methods (IoU: 0.65, PSNR: 28.5 dB, SSIM: 0.72, accuracy: 76.4). Crucially, the system maintains a single-image processing time of 22 ms, fulfilling the requirement for real-time clinical diagnosis. This research not only validates a robust AI-powered ultrasonic biosensing system for improving reproductive management in livestock but also establishes a reproducible, scalable framework for intelligent signal enhancement in broader biosensor applications. Full article

Background: Monozygotic twin pregnancies are at increased risk of congenital abnormalities compared to singletons. In 20% of cases, both fetuses are affected (concordance), while in 80% of cases, only one fetus is affected (discordance). This study examines the prevalence of discordance for structural defects in monochorionic (MC) twins, with normal aCGH comparative genomic hybridization (aCGH), reporting the types of detected abnormalities and their possible impact on perinatal outcomes, including the rate of single and double fetal loss before 24 weeks’ gestation and the rate of preterm birth (PB) before 32 weeks’ gestation. Methods: This was a retrospective study of discordant structural fetal anomalies in MC twin pregnancies detected at first-trimester scanning in three fetal medicine centers in Poland. Results: In the study population of 381 monochorionic twin pregnancies examined at 11–13 weeks’ gestation, 21 (5.5%) pregnancies showed discordant structural defects with normal aCGH result. The most common were cardiac defects (n = 8), followed by central nervous system (CNS) (n = 6) defects and facial anomalies (n = 3). Single or double fetal loss before 28 weeks occurred in four (19%) and two (9%) cases, respectively, and was associated with intertwin crown–rump length (CRL) discordance greater than 20% (p = 0.046). PB before 32 weeks’ gestation occurred in nine cases (47%) and was strongly associated with polyhydramnios (p = 0.001), which occurred mainly in CNS and facial defects. Conclusions: The prevalence of discordant structural defects with normal aCGH results among monochorionic twins is approximately 5%. In pregnancies with discordant defects, cardiac defects are the most common. Intertwin discordance greater than than 20% is associated with an increased risk of fetal demise. Full article

Objective: The objective was to evaluate the optimal timing of cervical cerclage insertion for perinatal outcomes, such as birthweight, gestational week, and pregnancy prolongation in women with diagnosed cervical insufficiency (CI). Methods: This retrospective study was conducted at the 1st Department of Obstetrics and Gynaecology of the Medical University of Warsaw, over a 10-year period. Maternal and perinatal outcomes were compared between 75 women divided into three groups based on the gestational week (GW) at cerclage insertion: (1) before 18 GW (n = 31), (2) 18–22 GW (n = 31), (3) after 22 GW (n = 13). Only single pregnancies were included in the final analysis in order to maintain the homogeneity of the population. The primary outcomes included the week of delivery and pregnancy prolongation following cervical cerclage insertion. Numerous secondary outcomes were also evaluated, including neonatal mortality, need for NICU hospitalization, Apgar score, birthweight, maternal white blood cell (WBC) count and C-reactive protein (CRP) levels. Results: Birth week was significantly associated with GW at insertion—35.8 ± 3.8 vs. 34.8 ± 5.2 vs. 32 ± 5.7, respectively, p = 0.016. Moreover, statistical difference was also found regarding birthweight of the analysed groups—2723.8 ± 951.6 g vs. 2518.5 ± 1167.9 g vs. 1886.7 ± 1011.2 g, respectively, p < 0.001, and pregnancy prolongation following cerclage insertion 20.4 ± 4.2 vs. 14.7 ± 5.5 vs. 7.3 ± 5.7 weeks, respectively, p < 0.001. Conclusions: Earlier cerclage placement (<18 weeks) is associated with significantly improved perinatal outcomes. However, this association largely reflects the benefit of prophylactic intervention over emergency ‘rescue’ procedures (common in the >22-week group). The sharp decline in outcomes after 22 weeks highlights the risks of advanced cervical dilation, suggesting that clinical management should prioritize risk assessment within the prophylactic window. Full article

Background and Objectives: Appendectomy is the most frequent non-obstetric emergency operation in pregnancy, yet its relationship with preterm birth (PTB) remains uncertain. We systematically reviewed studies assessing PTB after appendectomy during pregnancy, focusing on surgical approach and histopathology. Methods: Following a PRISMA-guided protocol, we searched PubMed, Scopus, and Web of Science to 1 October 2025 for studies reporting gestational-age outcomes after appendectomy in pregnancy. Eligible designs were cohort or case–control studies and case series ≥ 5 pregnancies. Data on technique, timing, pathology, and PTB were extracted and synthesized narratively; meta-analysis was not performed because of heterogeneity. Results: Six studies including over one thousand pregnancies with appendectomy and over one million comparators were identified. In the largest registry study, appendectomy was associated with increased PTB risk (adjusted hazard ratio [aHR] 1.73, 95% CI 1.42–2.09), with a stronger association for planned than spontaneous PTB. A matched cohort reported PTB in 11.9% of operated women versus 5.4% of controls and a higher PTB rate after negative appendectomy (20.5% vs. 9.2% with inflamed appendices). In a single-center series, PTB occurred in 24.4% after open but 0% after laparoscopic appendectomy. Across studies, crude PTB rates after appendectomy ranged from 4.5% to 24.4%. Three of five studies reporting effect estimates found significantly elevated PTB risk, whereas two smaller cohorts showed null or imprecise associations. Conclusions: Current evidence suggests that appendectomy in pregnancy is associated with increased PTB risk, particularly after negative or late-gestation open procedures, supporting careful diagnostic work-up, preference for laparoscopy when feasible, and close obstetric follow-up. Full article

Background: Differentiating hypophysitis from non-functioning pituitary macroadenomas (NFPMA) remains a clinical and radiological challenge. Both entities present as sellar masses with overlapping features but require distinct therapeutic approaches. Accurate preoperative identification is necessary to avoid unnecessary surgery in inflammatory forms. This review aims to compare the clinical, endocrine, and imaging characteristics of hypophysitis and NFPMA, incorporating recent findings and evaluating the performance of three diagnostic scoring systems currently in use. Methods: A comprehensive narrative literature review was conducted using original articles, clinical series, radiological studies, and systematic reviews retrieved from international databases. The analysis focused on demographic characteristics, clinical presentation, hormonal profiles, magnetic resonance imaging (MRI) features, and the comparative evaluation of the three published diagnostic scoring systems designed to differentiate hypophysitis from NFPMA. Results: Hypophysitis predominantly affects women, particularly during late pregnancy or the postpartum period, and is frequently associated with autoimmune diseases. Corticotropic deficiency and central diabetes insipidus (CDI) are disproportionately frequent in hypophysitis, whereas somatotropic deficiency is more characteristic of NFPMA. Radiologically, hypophysitis typically appears as a smaller, symmetric, and homogeneous mass with intense, uniform contrast enhancement, associated with pituitary stalk thickening and loss of the posterior pituitary bright spot. In contrast, NFPMA generally present as larger, asymmetric, and heterogeneous lesions, frequently invading the cavernous sinus and compressing the optic chiasm. Analysis of the three diagnostic scores indicates that combining clinical, hormonal, and imaging data improves accuracy compared to relying on single features. The most recent score includes hormonal markers, which significantly enhance sensitivity and specificity, emphasizing the importance of integrated assessment. Conclusions: No single clinical, hormonal, or imaging feature is pathognomonic. However, integrating clinical context, endocrine profile, imaging characteristics, and validated diagnostic scores significantly enhances preoperative diagnostic accuracy. The systematic use of composite scores may help optimize therapeutic decision-making and reduce unnecessary surgical interventions in patients with hypophysitis. Full article